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NM_004004.6(GJB2):c.239dup (p.Leu81fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 15, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001230368.8

Allele description [Variation Report for NM_004004.6(GJB2):c.239dup (p.Leu81fs)]

NM_004004.6(GJB2):c.239dup (p.Leu81fs)

Gene:
GJB2:gap junction protein beta 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
13q12.11
Genomic location:
Preferred name:
NM_004004.6(GJB2):c.239dup (p.Leu81fs)
HGVS:
  • NC_000013.11:g.20189343dup
  • NG_008358.1:g.8633dup
  • NM_004004.6:c.239dupMANE SELECT
  • NP_003995.2:p.Leu81fs
  • LRG_1350t1:c.239dup
  • LRG_1350:g.8633dup
  • LRG_1350p1:p.Leu81fs
  • NC_000013.10:g.20763481_20763482insT
  • NC_000013.10:g.20763482dup
  • NM_004004.5:c.239dup
  • NM_004004.5:c.239dupA
Protein change:
L81fs
Links:
dbSNP: rs1555341954
NCBI 1000 Genomes Browser:
rs1555341954
Molecular consequence:
  • NM_004004.6:c.239dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001402844Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jul 15, 2019) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.

Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling WJ.

Am J Hum Genet. 1998 Apr;62(4):792-9.

PubMed [citation]
PMID:
9529365
PMCID:
PMC1377046

A novel p.Leu213X mutation in GJB2 gene in a Portuguese family.

Gonçalves AC, Chora J, Matos TD, Santos R, O'Neill A, Escada P, Fialho G, Caria H.

Int J Pediatr Otorhinolaryngol. 2013 Jan;77(1):89-91. doi: 10.1016/j.ijporl.2012.10.002. Epub 2012 Nov 8.

PubMed [citation]
PMID:
23141775
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001402844.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. A different truncation (p.Lys112Glufs*2) that lies downstream of this variant has been determined to be pathogenic (PMID: 9529365, 23141775). This suggests that deletion of this region of the GJB2 protein is causative of disease. This variant has not been reported in the literature in individuals with GJB2-related disease. This sequence change results in a premature translational stop signal in the GJB2 gene (p.Leu81Alafs*21). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 146 amino acids of the GJB2 protein.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024